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雷特综合征和婴幼儿自闭症共有的一种“新”染色体标志物?81例患婴幼儿自闭症、儿童期精神病和雷特综合征儿童的X p22脆性位点频率

A "new" chromosome marker common to the Rett syndrome and infantile autism? The frequency of fragile sites at X p22 in 81 children with infantile autism, childhood psychosis and the Rett syndrome.

作者信息

Gillberg C, Wahlström J, Hagberg B

出版信息

Brain Dev. 1985;7(3):365-7. doi: 10.1016/s0387-7604(85)80046-2.

Abstract

Chromosomes from 46 autistic, 20 psychotic and 15 Rett syndrome children were cultured in a folic-acid-depleted medium. Nine percent of the autistic, 20% of the psychotic and 40% of the Rett syndrome cases showed a "new" chromosomal anomaly, viz a fragile site at the (X) (p22) location. It is suggested that in some cases of autism/psychosis and the Rett syndrome, there might be a common biological marker for the common type of psychiatric disturbance. However, as the population frequency of the chromosome marker is not yet known, conclusions must be drawn with great caution.

摘要

对46名自闭症儿童、20名精神疾病儿童和15名雷特综合征儿童的染色体在叶酸缺乏的培养基中进行培养。9%的自闭症病例、20%的精神疾病病例和40%的雷特综合征病例显示出一种“新的”染色体异常,即位于(X)(p22)位置的脆性位点。有人提出,在某些自闭症/精神疾病和雷特综合征病例中,可能存在一种针对常见类型精神障碍的共同生物学标志物。然而,由于染色体标志物的群体频率尚不清楚,得出结论时必须极其谨慎。

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